Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci.
Synthesis in British journal of haematology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 2 pooled it
1.7field-weighted citation impact, top 16% of its field
1 · What the graph read from it
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
2 · The registry
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
3 · Its place in the literature
Who cites it
3 citing papers in PubMed, 2 syntheses or guidelines pooled it, 6 citations in OpenAlex.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
19 authors at 11 institutions in 2 countries.
Eric Jay EarleyRTI International, Research Triangle Park, North Carolina, Durham, USA.ORCID 0000-0001-6576-1319
Shannon KellyBenioff Children's Hospital, University of San Francisco, San Francisco, California, USA.ORCID 0000-0003-2049-3992
Fang FangRTI International, Research Triangle Park, North Carolina, Durham, USA.ORCID 0000-0001-9829-2934
Cecília Salete AlencarLaboratório de Medicina Laboratorial LIM 03- HCFMUSP, São Paulo, Brazil.ORCID 0000-0002-3583-2275
Daniela de Oliveira Werneck RodriguesFundação Hemominas Juiz de Fora, Juiz de Fora, Brazil.ORCID 0000-0003-3062-2954
Dahra Teles Soares CruzDepartment of Hematology, Fundação de Hematologia e Hemoterapia de Pernambuco, HEMOPE, Pernambuco, Brazil.
Jonathan M FlanaganDivision of Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
Russell E WareCincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.ORCID 0000-0001-9582-0594
Xu ZhangDepartment of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.ORCID 0000-0002-7732-1385
Victor GordeukDepartment of Medicine, University of Illinois at Chicago, Chicago, Illinois, USA.ORCID 0000-0003-4725-7295
Mark GladwinDivision of Pulmonary, Allergy and Critical Care Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.ORCID 0000-0001-7267-9006
Yingze ZhangDivision of Pulmonary, Allergy and Critical Care Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.ORCID 0000-0001-6947-2901
Mehdi NouraieDivision of Pulmonary, Allergy and Critical Care Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.ORCID 0000-0001-7465-0581
Sergei NekhaiDepartment of Medicine, Center for Sickle Cell Disease, Howard University, Washington, District of Columbia, USA.ORCID 0000-0003-0744-7887
Ester SabinoInstituto de Medicina Tropical, University of São Paulo, São Paulo, Brazil.ORCID 0000-0003-2623-5126
Carla DinardoInstituto de Medicina Tropical, University of São Paulo, São Paulo, Brazil.ORCID 0000-0002-0453-7863
Grier P PageRTI International, Research Triangle Park, North Carolina, Durham, USA.ORCID 0000-0003-2582-3786
International Component of the NHLBI Recipient Epidemiology and Donor Evaluation Study (REDS-III) and the NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium
RTI International · USUniversity of Pittsburgh · USUniversidade de São Paulo · BRUniversity of Illinois Chicago · USBaylor College of Medicine · USCincinnati Children's Hospital Medical Center · USFundação Centro de Hematologia e Hemoterapia de Minas Gerais · BRFundação Hemopa · BRHoward University · USPacific Research Institute · USUniversity of California, San Francisco · US
Funding
REDS-IV-P - CENTER FOR TRANSFUSION LABORATORY STUDIES (CTLS) - SARS-CoV-2/COVID-19 STUDIES75N92019D00033 · NHLBI · VITALANT · PI NORRIS, PHILIP J. · 2019 to 2024
$15.6M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
Center for Hemoglobin Research in Minorities (CHaRM)P50HL118006 · NHLBI · HOWARD UNIVERSITY · PI NEKHAI, SERGEI · 2013 to 2017
$7.0M
Sickle Cell Disease and Sickle Cell Trait Protection Against HIV-1-infection in Africans and African AmericansR01HL125005 · NHLBI · HOWARD UNIVERSITY · PI MARINA A JEREBTSOVA, SERGEI NEKHAI · 2014 to 2026
$6.7M
Rare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6M
Novel Pathways in Ischemic Stroke in Sickle Cell AnemiaR01HL136415 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI FLANAGAN, JONATHAN MICHAEL · 2019 to 2021
$1.6M
Whole Genome Sequence Analysis of Genetic Factors for Stroke, Hypertension, and Fetal Hemoglobin in Sickle Cell DiseaseR21HL135367 · NHLBI · RESEARCH TRIANGLE INSTITUTE · PI PAGE, GRIER P · 2017 to 2018
Ischaemic stroke is a common complication of sickle cell disease (SCD) and without intervention can affect 11% of children with SCD before the age of 20. Within the Trans-Omics for Precision Medicine (TOPMed), a genome-wide association study (GWAS) of ischaemic stroke was performed on 1333 individuals with SCD from Brazil (178 cases, 1155 controls). Via a novel Cox proportional-hazards analysis, we searched for variants associated with ischaemic stroke occurring at younger ages. Variants at genome-wide significance (p < 5 × 10
Indexed as
Anemia, Sickle CellBrain IschemiaIschemic StrokeStrokeADAMTS ProteinsAdaptor Proteins, Signal TransducingAdolescentAdultBrazilChildCyclin-Dependent KinasesGenome-Wide Association StudyHumansMiddle AgedYoung AdultADAMTS2 protein, humanADAMTS ProteinsAdaptor Proteins, Signal TransducingCyclin-Dependent KinasesPCTAIRE-3 protein kinaseTBC1D32 protein, humanBrazilGWASischaemic strokesickle cell diseasestroke
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.
Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci. · full record | OpenQuestion